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- [41] Recommendations for whole genome sequencing in diagnostics for rare diseasesEuropean Journal of Human Genetics, 2022, 30 : 1017 - 1021Erika Souche论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenSergi Beltran论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenErwin Brosens论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenJohn W. Belmont论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMagdalena Fossum论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenOlaf Riess论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenChristian Gilissen论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenAmin Ardeshirdavani论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenGunnar Houge论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMarielle van Gijn论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenJill Clayton-Smith论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMatthis Synofzik论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenNicole de Leeuw论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenZandra C. Deans论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenYasemin Dincer论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenSebastian H. Eck论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenSaskia van der Crabben论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMeena Balasubramanian论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenHolm Graessner论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMarc Sturm论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenHelen Firth论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenAlessandra Ferlini论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenRima Nabbout论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenElfride De Baere论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenThomas Liehr论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMilan Macek论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenGert Matthijs论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenHans Scheffer论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenPeter Bauer论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenHelger G. Yntema论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU LeuvenMarjan M. Weiss论文数: 0 引用数: 0 h-index: 0机构: Gasthuisberg,Center for Human Genetics, KU Leuven
- [42] Recommendations for whole genome sequencing in diagnostics for rare diseasesEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (09) : 1017 - 1021Souche, Erika论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium论文数: 引用数: h-index:机构:Brosens, Erwin论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Clin Genet, Sophia Childrens Hosp, Rotterdam, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumBelmont, John W.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumFossum, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Rigshosp, Dept Pediat Surg, Copenhagen, Denmark Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumArdeshirdavani, Amin论文数: 0 引用数: 0 h-index: 0机构: Agilent Technol, Diagnost & Genom Grp, Leuven, Belgium Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Synofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgiumde Leeuw, Nicole论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Donders Ctr Cognit Neurosci, Nijmegen, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumDeans, Zandra C.论文数: 0 引用数: 0 h-index: 0机构: NHS Lothian, Genom Qual Assessment, Edinburgh, Midlothian, Scotland Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumDincer, Yasemin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Lehrstuhl Sozialpadiatrie, Munich, Germany Zentrum Humangenet & Lab Diagnost MVZ, Martinsried, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumEck, Sebastian H.论文数: 0 引用数: 0 h-index: 0机构: MVZ Martinsried GmbH, Martinsried, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgiumvan eer Crabben, Saskia论文数: 0 引用数: 0 h-index: 0机构: Amsterdam Univ Med Ctr, Dept Clin Genet, Locat AMC, Amsterdam, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumBalasubramanian, Meena论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Highly Specialised Osteogenesis Imperfecta Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumGraessner, Holm论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Tubingen, Inst Med Genet & Appl Genom, Calwerstr 7, D-72076 Tubingen, Germany Univ Hosp Tubingen, Ctr Rare Dis, Calwerstr 7, D-72076 Tubingen, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumSturm, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumFirth, Helen论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp, Dept Clin Genet, Box 134, Cambridge, England Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium论文数: 引用数: h-index:机构:Nabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Hop Necker Enfants Malad, AP HP, Inst Imagine INSERM UMR 1163,Pediat Neurol Refere, Paris, France Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Macek, Milan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumMatthijs, Gert论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumScheffer, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumYntema, Helger G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, BelgiumWeiss, Marjan M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Katholieke Univ Leuven, Lab Mol Diag, Gasthuisberg, Ctr Human Genet, Leuven, Belgium
- [43] Whole-Genome-Sequencing Reveals Involvement of Mitochondria-Dependent Apoptotic Genes in High Altitude Pulmonary HypertensionAMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2018, 197Stobdan, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAIranmehr, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Elect & Comp Engn, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAZhou, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAPoulsen, O.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAStrohl, K. P.论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Cleveland, OH 44106 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAAldashev, A. A.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Cardiol & Internal Med, Bishkek, Kyrgyzstan Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USATelenti, A.论文数: 0 引用数: 0 h-index: 0机构: Human Longev Inc, San Diego, CA USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAWong, E. H. M.论文数: 0 引用数: 0 h-index: 0机构: Human Longev Inc, San Diego, CA USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAKirkness, E. F.论文数: 0 引用数: 0 h-index: 0机构: Human Longev Inc, San Diego, CA USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAVenter, J. C.论文数: 0 引用数: 0 h-index: 0机构: J Craig Venter Inst, San Diego, CA USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USABafna, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Comp Sci & Engn, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USAHaddad, G. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA
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- [46] RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing dataBIOINFORMATICS, 2016, 32 (19) : 3018 - 3020Stokowy, Tomasz论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Sci, N-5020 Bergen, Norway Univ Bergen, Dept Informat, Computat Biol Unit, N-5020 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayGarbulowski, Mateusz论文数: 0 引用数: 0 h-index: 0机构: Silesian Tech Univ, Dept Informat, PL-44100 Gliwice, Poland Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayFiskerstrand, Torunn论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Sci, N-5020 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayHoldhus, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Sci, N-5020 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayLabun, Kornel论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Informat, Computat Biol Unit, N-5020 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, Norway论文数: 引用数: h-index:机构:Gilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 Nijmegen, Netherlands Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 Nijmegen, Netherlands Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayPetersen, Kjell论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Informat, Computat Biol Unit, N-5020 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwayJonassen, Inge论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Informat, Computat Biol Unit, N-5020 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, NorwaySteen, Vidar M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Sci, N-5020 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Univ Bergen, Dept Clin Sci, N-5020 Bergen, Norway
- [47] Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesGenome Medicine, 15Alistair T. Pagnamenta论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsCarme Camps论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsEdoardo Giacopuzzi论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsJohn M. Taylor论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsMona Hashim论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsEduardo Calpena论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsPamela J. Kaisaki论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsAkiko Hashimoto论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsJing Yu论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsEdward Sanders论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsRon Schwessinger论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsJim R. Hughes论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsGerton Lunter论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsHelene Dreau论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsMatteo Ferla论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsLukas Lange论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsYesim Kesim论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsVassilis Ragoussis论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsDimitrios V. Vavoulis论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsHolger Allroggen论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsOlaf Ansorge论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsChristian Babbs论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsSiddharth Banka论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsBenito Baños-Piñero论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsDavid Beeson论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsTal Ben-Ami论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsDavid L. Bennett论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsCeleste Bento论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsEdward Blair论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsCharlotte Brasch-Andersen论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsKatherine R. Bull论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsHolger Cario论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsDeirdre Cilliers论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsValerio Conti论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsE. Graham Davies论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsFatima Dhalla论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsBeatriz Diez Dacal论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsYin Dong论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsJames E. Dunford论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsRenzo Guerrini论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsAdrian L. Harris论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsJane Hartley论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsGeorg Hollander论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsKassim Javaid论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsMaureen Kane论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsDeirdre Kelly论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsDominic Kelly论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsSamantha J. L. Knight论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsAlexandra Y. Kreins论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human GeneticsErika M. Kvikstad论文数: 0 引用数: 0 h-index: 0机构: University of Oxford,Wellcome Centre for Human Genetics
- [48] Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesGENOME MEDICINE, 2023, 15 (01)Pagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandCamps, Carme论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandGiacopuzzi, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Human Technopole, Viale Rita Levi Montalcini 1, I-20157 Milan, Italy Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandTaylor, John M.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Genet Labs, Old Rd, Oxford OX3 7LE, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandHashim, Mona论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandCalpena, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Oxford OX3 9DS, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandKaisaki, Pamela J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandHashimoto, Akiko论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Oxford OX3 9DS, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandYu, Jing论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, 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L.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandKreins, Alexandra Y.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Immunol, 2Nd Floor,20C Guilford St, London WC1N 1DZ, England UCL Great Ormond St Inst Child Hlth, Zayed Ctr Res, 2Nd Floor,20C Guilford St, London WC1N 1DZ, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, EnglandKvikstad, Erika M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England Univ Oxford, Wellcome Ctr Human Genet, Old Rd Campus,Roosevelt Dr, Oxford OX3 7BN, England
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- [50] Fast forward genetics to identify mutations causing a high light tolerant phenotype in Chlamydomonas reinhardtii by whole-genome-sequencingBMC GENOMICS, 2015, 16Schierenbeck, Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, Germany Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, GermanyRies, David论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol, Dept Biol, D-33615 Bielefeld, Germany Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, GermanyRogge, Kristin论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, Germany Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, GermanyGrewe, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, Germany Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, GermanyWeisshaar, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol, Dept Biol, D-33615 Bielefeld, Germany Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, GermanyKruse, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, Germany Univ Bielefeld, Ctr Biotechnol Algae Biotechnol & Bioenergy, Dept Biol, D-33615 Bielefeld, Germany